Canonical Allele Identifier: CA1950893

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923626C>T , CM000664.2:g.168923626C>T	GRCh38
NC_000002.11:g.169780136C>T , CM000664.1:g.169780136C>T	GRCh37
NC_000002.10:g.169488382C>T	NCBI36
NG_007374.1:g.112698G>A
NG_007374.2:g.112771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+1031G>A
ENST00000649448.1:c.2339G>A	ENSP00000497165.1:p.Ser780Asn
ENST00000650372.1:c.3962G>A MANE Select	ENSP00000497931.1:p.Ser1321Asn
ENST00000263817.6:c.3962G>A	ENSP00000263817.6:p.Ser1321Asn
ENST00000439188.1:c.2579G>A	ENSP00000416058.1:n.2579G>A
NM_003742.2:c.3962G>A	NP_003733.2:p.Ser1321Asn
XM_006712817.2:c.4004G>A	XP_006712880.1:p.Ser1335Asn
XM_011512077.1:c.4064G>A	XP_011510379.1:p.Ser1355Asn
XM_011512078.1:c.4064G>A	XP_011510380.1:p.Ser1355Asn
XM_011512079.1:c.4064G>A	XP_011510381.1:p.Ser1355Asn
XM_011512081.1:c.2288G>A	XP_011510383.1:p.Ser763Asn
NM_003742.4:c.3962G>A MANE Select	NP_003733.2:p.Ser1321Asn
XM_006712817.3:c.4004G>A	XP_006712880.1:p.Ser1335Asn
XM_011512077.2:c.4064G>A	XP_011510379.1:p.Ser1355Asn
XM_011512078.2:c.4064G>A	XP_011510380.1:p.Ser1355Asn
XM_011512081.2:c.2288G>A	XP_011510383.1:p.Ser763Asn
XM_017005165.1:c.3867+1031G>A	XP_016860654.1:n.3867+1031G>A
XM_017005166.1:c.3293G>A	XP_016860655.1:p.Ser1098Asn
XM_017005167.1:c.2747G>A	XP_016860656.1:p.Ser916Asn